Variant report

Variant	rs542880426
Chromosome Location	chr12:104532677-104532678
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:104531593-104532728	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:104530398-104532806	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr12:104531718-104532771	NB4	blood:	n/a	n/a
4	E2F6	chr12:104531600-104532908	K562	blood:	n/a	n/a
5	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
6	TAF1	chr12:104531698-104532854	H1-neurons	neurons:	n/a	n/a
7	HCFC1	chr12:104530774-104533047	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr12:104530363-104533203	SK-N-SH	brain:	n/a	chr12:104532334-104532343
9	MAX	chr12:104531709-104532710	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr12:104531656-104532862	A549	lung:	n/a	n/a
11	MAX	chr12:104531586-104532842	HCT-116	colon:	n/a	n/a
12	MAX	chr12:104531039-104532779	K562	blood:	n/a	chr12:104531092-104531102
13	MAX	chr12:104531639-104532688	SK-N-SH	brain:	n/a	n/a
14	REST	chr12:104530278-104533127	H1-neurons	neurons:	n/a	chr12:104532401-104532410 chr12:104531530-104531543 chr12:104531555-104531568 chr12:104532262-104532276 chr12:104532534-104532541 chr12:104532349-104532367 chr12:104532525-104532538 chr12:104532268-104532281 chr12:104531276-104531289
15	CBX3	chr12:104531739-104532735	K562	blood:	n/a	n/a
16	E2F6	chr12:104531664-104532796	A549	lung:	n/a	n/a
17	POLR2A	chr12:104530332-104533046	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr12:104531710-104532714	H1-hESC	embryonic stem cell:	n/a	n/a
19	RFX5	chr12:104531515-104533035	SK-N-SH	brain:	n/a	n/a
20	ELK1	chr12:104532627-104532794	K562	blood:	n/a	n/a
21	MAX	chr12:104531767-104532680	MCF-7	breast:	n/a	n/a
22	EP300	chr12:104529604-104533013	SK-N-SH	brain:	n/a	chr12:104530017-104530031 chr12:104531582-104531598 chr12:104532225-104532241
23	EP300	chr12:104531536-104532866	A549	lung:	n/a	chr12:104531582-104531598 chr12:104532225-104532241
24	MAX	chr12:104531868-104532693	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr12:104531536-104532929	A549	lung:	n/a	n/a
26	TCF12	chr12:104531662-104532990	A549	lung:	n/a	n/a
27	MAZ	chr12:104530379-104533038	IMR90	lung:	n/a	chr12:104531092-104531102
28	POLR2A	chr12:104532604-104532785	ProgFib	skin:	n/a	n/a
29	JUND	chr12:104531660-104532801	GM12878	blood:	n/a	n/a
30	E2F6	chr12:104531813-104532896	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr12:104530816-104532875	HepG2	liver:	n/a	chr12:104531092-104531102
32	POLR2A	chr12:104530397-104532723	HepG2	liver:	n/a	n/a
33	MYC	chr12:104531688-104532953	NB4	blood:	n/a	n/a
34	SIN3A	chr12:104530835-104532791	H1-hESC	embryonic stem cell:	n/a	chr12:104532268-104532281 chr12:104531555-104531568 chr12:104532261-104532275 chr12:104531530-104531543 chr12:104532401-104532411
35	MAX	chr12:104531703-104532719	ECC-1	luminal epithelium:	n/a	n/a
36	HA-E2F1	chr12:104531769-104532763	MCF-7	breast:	n/a	chr12:104532202-104532213
37	POLR2A	chr12:104531466-104532979	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
3	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
4	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
5	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
6	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
7	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
8	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
9	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
10	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
11	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
12	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
13	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
14	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
15	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
16	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
17	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:

Variant related genes	Relation type
NFYB	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000153721	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000257193	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000199415	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	esv1822830	chr12:104531180-104535862	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1851658	chr12:104531180-104535862	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104530000-104532800	Active TSS	Aorta	Aorta
2	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:104530400-104532800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:104530600-104532800	Active TSS	Psoas Muscle	Psoas
7	chr12:104530800-104532800	Active TSS	Brain Germinal Matrix	brain
8	chr12:104531200-104533000	Active TSS	Brain Angular Gyrus	brain
9	chr12:104532200-104532800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:104532200-104532800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104532200-104532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104532200-104532800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:104532200-104532800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:104532200-104532800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:104532200-104532800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:104532200-104532800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr12:104532200-104532800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:104532200-104532800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104532200-104532800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:104532200-104532800	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr12:104532200-104532800	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr12:104532200-104532800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:104532200-104532800	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:104532200-104532800	Flanking Active TSS	Hela-S3	cervix
25	chr12:104532200-104532800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:104532200-104532800	Flanking Active TSS	Osteobl	bone
27	chr12:104532200-104533000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr12:104532200-104533000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:104532200-104533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:104532200-104533000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:104532200-104533000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:104532200-104533000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr12:104532200-104533000	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:104532200-104533000	Flanking Active TSS	Pancreas	Pancrea
35	chr12:104532200-104533000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:104532200-104533000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:104532200-104533000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr12:104532200-104533000	Flanking Active TSS	K562	blood
39	chr12:104532200-104533000	Flanking Active TSS	NH-A	brain
40	chr12:104532200-104533200	Flanking Active TSS	Dnd41	blood
41	chr12:104532400-104532800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:104532400-104532800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:104532400-104532800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:104532400-104532800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:104532400-104532800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:104532400-104532800	Enhancers	Lung	lung
47	chr12:104532400-104532800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:104532400-104532800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:104532400-104532800	Enhancers	Small Intestine	intestine
50	chr12:104532400-104532800	Flanking Active TSS	HSMM	muscle

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